Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AMDHD1_chr12_95938331_95973720	95971936	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0081 a0002c0003t0009g0081	1	150	0.0067	21	c.40 others(32): Show c.4093_*4094insTTTTTTTTTTTTTTTTTTTTT		AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding					3217		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG02015.hp2 others(4): Show HG01346.hp1 HG01934.hp2 HG02015.hp2 HG02027.hp2 NA18944.hp2 NA19054.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0073 a0001c0003t0001g0001	7	19	0.3684	21	c.38 others(32): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTTT		AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding					2014		chr16	TogoVar
AMER2_chr13_25156679_25177288	25170698	G G	GCTCGGGG others(14): Show GCTCGGGGGGTGCCCGGGGCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02056.hp1 HG03225.hp2 HG03453.hp1 others(2): Show HG02056.hp1 HG03225.hp2 HG03453.hp1 NA19074.hp2 NA19080.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0024 a0003c0003t0025 a0004c0004t0026 a0003c0003t0024 a0003c0003t0025 a0004c0004t0026	a0003c0003t0024g0000 a0003c0003t0025g0000 a0004c0004t0026g0000 a0003c0003t0024g0000 a0003c0003t0025g0000 a0004c0004t0026g0000	5	414	0.0121	21	c.921 others(28): Show c.921_922insAAGCCCCGGGCACCCCCCGAG	p.Glu others(34): Show p.Glu307_Pro308insLysProArgAlaProProGlu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1590/10610	921/2016	307/671			chr13	TogoVar
AMFR_chr16_56356452_56430545	56398131	A A	AATATATA others(14): Show AATATATAACTCTATCATTTAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	354	0.0028	21	c.108 others(40): Show c.1085+3581_1085+3601dupATAAATGATAGAGTTATATAT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56398153	A A	AATATATA others(14): Show AATATATAACTCTATCATTTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	354	0.0028	21	c.108 others(40): Show c.1085+3559_1085+3579dupATAAATGATAGAGTTATATAT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56398267	C C	CTGTATCA others(14): Show CTGTATCATTTATATATATAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0225 a0001c0001t0026g0227 a0001c0001t0026g0225 a0001c0001t0026g0227	2	167	0.0120	21	c.108 others(40): Show c.1085+3465_1085+3466insTTTATATATATAAATGATACA		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56398267	C C	CTGTATCA others(14): Show CTGTATCATTTATATATGTAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02818.hp2 others(5): Show HG02280.hp1 HG02717.hp1 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 others(5): Show a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 a0001c0002t0012g0325 a0001c0002t0012g0326 a0001c0002t0012g0327 a0001c0002t0012g0328 a0001c0002t0012g0329	8	173	0.0462	21	c.108 others(40): Show c.1085+3445_1085+3465dupTTTACATATATAAATGATACA		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56406127	G G	GGGAGAGA others(14): Show GGGAGAGAGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0189 a0001c0001t0004g0189	1	112	0.0089	21	c.667 others(36): Show c.667-884_667-883insTCTCCTCTCCTCTCTCTCTCC		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02735.hp1 HG03579.hp1 others(3): Show HG02257.hp2 HG02735.hp1 HG03579.hp1 NA18969.hp1 NA18987.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0026 a0001c0001t0046 a0001c0001t0047	a0001c0001t0004g0182 a0001c0001t0005g0020 a0001c0001t0010g0158 others(3): Show a0001c0001t0004g0182 a0001c0001t0005g0020 a0001c0001t0010g0158 a0001c0001t0026g0227 a0001c0001t0046g0220 a0001c0001t0047g0214	6	92	0.0652	21	c.667 others(38): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13						chr16	TogoVar
AMFR_chr16_56356452_56430545	56425436	T T	TGCCGCTG others(14): Show TGCCGCTGCCGCTGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0348 a0001c0001t0054g0348	1	347	0.0029	21	c.-11 others(30): Show c.-110_-109insGGCGGCGGCAGCGGCAGCGGC		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14				110		chr16	TogoVar
AMFR_chr16_56356452_56430545	56425436	T T	TGCCGCTG others(14): Show TGCCGCTGCCGCTGCCGCTGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0343 a0001c0001t0051g0343	1	347	0.0029	21	c.-11 others(30): Show c.-110_-109insGGCAGCGGCAGCGGCAGCGGC		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14				110		chr16	TogoVar
AMH_chr19_2244323_2257073	2248153	T T	TGGAGTCC others(14): Show TGGAGTCCACCCTCCAGCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01074.hp2 others(12): Show HG00408.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01943.hp1 HG02015.hp2 HG02683.hp2 HG02698.hp1 HG03453.hp1 HG03654.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0013 a0001c0001 a0001c0005 a0001c0013	a0001c0001t0001 a0001c0005t0001 a0001c0013t0001 a0001c0001t0001 a0001c0005t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0005t0001g0002 a0001c0013t0001g0002 a0001c0001t0001g0002 a0001c0005t0001g0002 a0001c0013t0001g0002	15	379	0.0396	21	c.-11 others(32): Show c.-1180_-1179insGGAGTCCACCCTCCAGCCCCC		AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding					1169		chr19	TogoVar
AMIGO1_chr1_109499178_109514727	109508618	T T	TCAGGTGG others(14): Show TCAGGTGGTTGTGGCTCAGCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0036 a0003c0004t0001g0036	1	398	0.0025	21	c.274 others(28): Show c.274_294dupCTGCTGAGCCACAACCACCTG	p.Leu others(32): Show p.Leu98_Asn99insLeuLeuSerHisAsnHisLeu	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding	2/2	689/5130	294/1482	98/493			chr1	TogoVar
AMPH_chr7_38378704_38636373	38571323	T T	TATATATA others(14): Show TATATATATTTATATATAGAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0151 a0001c0001t0009g0151	1	286	0.0035	21	c.70- others(38): Show c.70-36313_70-36312insGTTCTATATATAAATATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20						chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	81	0.0123	21	c.327 others(40): Show c.327+30048_327+30049insTATATATATATATATATATAT		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	297	0.0034	21	c.-28 others(38): Show c.-28+2008_-28+2028dupAAAAAAAAAAAAAAAAAAAAA		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG02155.hp2 others(4): Show HG01496.hp1 HG02145.hp1 HG02155.hp2 HG02809.hp1 NA18951.hp1 NA18975.hp2 NA18989.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0007 a0004c0032 a0001c0004 a0001c0007 a0004c0032	a0001c0004t0003 a0001c0007t0007 a0004c0032t0007 a0001c0004t0003 a0001c0007t0007 a0004c0032t0007	a0001c0004t0003g0159 a0001c0004t0003g0164 a0001c0004t0003g0165 others(4): Show a0001c0004t0003g0159 a0001c0004t0003g0164 a0001c0004t0003g0165 a0001c0004t0003g0172 a0001c0004t0003g0183 a0001c0007t0007g0254 a0004c0032t0007g0253	7	121	0.0579	21	c.247 others(38): Show c.2476+282_2476+283insTTTTTTTTTTTTTTTTTTTTT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47						chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(14): Show TTGGTGGTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02717.hp1 NA19079.hp2 HG01243.hp1 HG02717.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0081 a0001c0001t0001g0193 a0001c0002t0001g0096 a0001c0001t0001g0081 a0001c0001t0001g0193 a0001c0002t0001g0096	3	127	0.0236	21	c.-37 others(30): Show c.-379_-378insCCACCACCACCACCACCACCA		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding					308		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382461	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	94	0.0106	21	c.935 others(36): Show c.935+381_935+382insATATATATATATATATATATT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110394669	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	52	0.0192	21	c.408 others(36): Show c.408+411_408+431dupTTTTTTTTTTTTTTTTTTTTT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	3/10						chr12	TogoVar
ANGPT4_chr20_864900_921334	867555	A A	ACTACAGG others(14): Show ACTACAGGTACACACCACTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01071.hp2 others(18): Show HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01943.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18994.hp2 NA19006.hp1 NA19011.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0001c0026 a0002c0004 a0003c0029	a0001c0001t0007 a0001c0001t0023 a0001c0002t0021 others(5): Show a0001c0001t0007 a0001c0001t0023 a0001c0002t0021 a0001c0006t0009 a0001c0012t0004 a0001c0026t0009 a0002c0004t0004 a0003c0029t0002	a0001c0001t0007g0035 a0001c0001t0007g0041 a0001c0001t0007g0074 others(17): Show a0001c0001t0007g0035 a0001c0001t0007g0041 a0001c0001t0007g0074 a0001c0001t0007g0208 a0001c0001t0007g0250 a0001c0001t0007g0260 a0001c0001t0023g0031 a0001c0002t0021g0117 a0001c0006t0009g0107 a0001c0012t0004g0091 a0001c0012t0004g0283 a0001c0026t0009g0229 a0002c0004t0004g0005 a0002c0004t0004g0066 a0002c0004t0004g0075 a0002c0004t0004g0126 a0002c0004t0004g0287 a0002c0004t0004g0395 a0002c0004t0004g0396 a0003c0029t0002g0402	21	430	0.0488	21	c.54 others(32): Show c.5404_*5405insCACAGTGGTGTGTACCTGTAG		ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding					2344		chr20	TogoVar
ANGPTL1_chr1_178844535_178876077	178856394	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0261 a0001c0001t0005g0261	1	122	0.0082	21	c.824 others(38): Show c.824-2628_824-2608dupAAAAAAAAAAAAAAAAAAAAA		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	3/5						chr1	TogoVar
ANGPTL5_chr11_101885674_101921522	101889186	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	418	0.0024	21	c.20 others(32): Show c.2092_*2093insCTCTCTTTCTTTCTTTCTTTC		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding					1487		chr11	TogoVar
ANGPTL5_chr11_101885674_101921522	101918421	C C	CGCGCTGT others(14): Show CGCGCTGTCAGTTGTTGTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	420	0.0024	21	c.-24 others(32): Show c.-2496_-2495insTTATACAACAACTGACAGCGC		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding					1900		chr11	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01975.hp2 HG00544.hp1 HG00609.hp2 HG01975.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0014 a0002c0003 a0008c0014	a0002c0003t0001 a0008c0014t0001 a0002c0003t0001 a0008c0014t0001	a0002c0003t0001g0050 a0002c0003t0001g0057 a0008c0014t0001g0157 a0002c0003t0001g0050 a0002c0003t0001g0057 a0008c0014t0001g0157	3	38	0.0789	21	c.85- others(38): Show c.85-24536_85-24516dupAAAAAAAAAAAAAAAAAAAAA		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	10	0.1000	21	c.332 others(40): Show c.3328+5650_3328+5670dupAAAAAAAAAAAAAAAAAAAAA		ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43						chr10	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTACTAC others(14): Show TCTACTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01256.hp1 others(13): Show HG00544.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02074.hp2 HG02602.hp1 HG03225.hp2 HG03491.hp2 NA18522.hp1 NA18952.hp2 NA18969.hp2 NA19011.hp2 NA19043.hp1 NA19072.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0002 a0014c0022 a0001c0001 a0003c0002 a0014c0022	a0001c0001t0001 a0003c0002t0001 a0014c0022t0001 a0001c0001t0001 a0003c0002t0001 a0014c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0244 a0003c0002t0001g0063 a0014c0022t0001g0006	16	67	0.2388	21	c.405 others(38): Show c.4057+221_4057+241dupCTACTACTACTACTACTACTA		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTTCTAC others(14): Show TCTTCTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0001 a0013c0024t0001	a0013c0024t0001g0268 a0013c0024t0001g0268	1	52	0.0192	21	c.405 others(38): Show c.4057+204_4057+205insTCTACTACTACTACTACTACT		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745024	C C	CTAATAAT others(14): Show CTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	294	0.0034	21	c.405 others(38): Show c.4057+238_4057+239insATAATAATAATAATAATAATA		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTAATAAT others(14): Show CTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04204.hp2 HG04115.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0096 a0001c0001t0001g0111	2	20	0.1000	21	c.405 others(38): Show c.4057+247_4057+248insATAATAATAATAATAATAATA		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64945607	C C	CTTTATAT others(14): Show CTTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0257 a0001c0002t0004g0257	1	3	0.3333	21	c.116 others(38): Show c.1161+860_1161+861insTTTATATATATATATATATAT		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	12/14						chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64951299	C C	CTTCTTTT others(14): Show CTTCTTTTCTTCTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02559.hp2 HG03471.hp2 others(2): Show HG02040.hp2 HG02559.hp2 HG03471.hp2 NA18747.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0090 a0001c0002t0001g0200 a0001c0002t0001g0201 others(2): Show a0001c0002t0001g0090 a0001c0002t0001g0200 a0001c0002t0001g0201 a0002c0003t0002g0279 a0002c0003t0002g0280	5	37	0.1351	21	c.148 others(40): Show c.1483+1332_1483+1333insTTCTTCTCTTCTTCTTTTCTT		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKDD1A_chr15_64906902_64963691	64951302	C C	CTTTTCTT others(14): Show CTTTTCTTCTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0181 a0002c0003t0002g0181	1	335	0.0030	21	c.148 others(40): Show c.1483+1332_1483+1333insTTCTTCTCTTCTTCTTCTTTT		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKFN1_chr17_56148475_56522016	56189179	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp1 NA18950.hp2 others(3): Show HG02970.hp1 HG03098.hp1 NA18950.hp2 NA18952.hp2 NA18981.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0009 a0001c0023 others(2): Show a0001c0001 a0001c0009 a0001c0023 a0002c0008 a0004c0005	a0001c0001t0001 a0001c0009t0001 a0001c0023t0023 others(2): Show a0001c0001t0001 a0001c0009t0001 a0001c0023t0023 a0002c0008t0002 a0004c0005t0004	a0001c0001t0001g0074 a0001c0009t0001g0070 a0001c0009t0001g0076 others(3): Show a0001c0001t0001g0074 a0001c0009t0001g0070 a0001c0009t0001g0076 a0001c0023t0023g0085 a0002c0008t0002g0094 a0004c0005t0004g0093	6	84	0.0714	21	c.-70 others(40): Show c.-70-23410_-70-23409insTTTTTTTTTTTGTTTTTTTTT		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56368276	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp2 HG02257.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0011 a0001c0010t0026 a0001c0004t0011 a0001c0010t0026	a0001c0004t0011g0065 a0001c0010t0026g0009 a0001c0004t0011g0065 a0001c0010t0026g0009	2	14	0.1429	21	c.602 others(38): Show c.602-4369_602-4349dupTTTTTTTTTTTTTTTTTTTTT		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	6/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140485397	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	57	0.0175	21	c.199 others(38): Show c.1998+149_1998+150insCACACACACACACACACACAC		ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	12/33						chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92309940	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0012 a0001c0004t0005 a0001c0004t0012	a0001c0004t0005g0021 a0001c0004t0012g0029 a0001c0004t0005g0021 a0001c0004t0012g0029	2	270	0.0074	21	c.486 others(38): Show c.486+2284_486+2285insTATATATATATATATATATAT		ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19						chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0276 a0001c0003t0002g0276	1	121	0.0083	21	c.486 others(38): Show c.486+2287_486+2288insAAAAAAAAAAAAATATATATA		ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0268 a0001c0003t0002g0268	1	121	0.0083	21	c.486 others(38): Show c.486+2287_486+2288insAAAAAAAAAAATATATATATA		ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18981.hp2 NA18984.hp2 HG02523.hp1 NA18981.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0002 a0003c0006t0002 a0001c0003t0002 a0003c0006t0002	a0001c0003t0002g0290 a0001c0003t0002g0304 a0003c0006t0002g0303 a0001c0003t0002g0290 a0001c0003t0002g0304 a0003c0006t0002g0303	3	123	0.0244	21	c.486 others(38): Show c.486+2287_486+2288insAAAAAAAAATATATATATATA		ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKIB1_chr7_92240974_92406383	92309942	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0246 a0001c0003t0002g0246	1	121	0.0083	21	c.486 others(38): Show c.486+2287_486+2288insAAAAAAATATATATATATATA		ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132726354	C C	CAACTGAA others(14): Show CAACTGAAATGAGTTCCAAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0290 a0005c0005t0014g0290	1	348	0.0029	21	c.86 others(30): Show c.867_*887dupATTTTGGAACTCATTTCAGTT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	13/13				887		chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132746348	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	269	0.0037	21	c.123 others(40): Show c.1230+1483_1230+1484insTTTTTTTTTTTTTTTTTTTTT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	5/12						chr12	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp1 HG02148.hp2 others(9): Show HG00609.hp1 HG02129.hp1 HG02148.hp2 HG02300.hp1 NA18941.hp2 NA18982.hp1 NA18989.hp1 NA18989.hp2 NA19065.hp2 NA19076.hp2 NA19087.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0086 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0006g0274 a0001c0001t0006g0276	12	17	0.7059	21	c.691 others(36): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTT		ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5						chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89305744	T T	TCCCACTC others(14): Show TCCCACTCCGCAGACACGCGCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01109.hp1 others(30): Show HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG02015.hp2 HG02071.hp2 HG02145.hp1 HG02451.hp2 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp1 HG04184.hp2 HG04204.hp1 NA18966.hp1 NA18975.hp1 NA19000.hp1 NA19005.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0015	a0001c0001 a0001c0011 a0001c0024 others(6): Show a0001c0001 a0001c0011 a0001c0024 a0002c0002 a0003c0008 a0003c0038 a0004c0004 a0013c0019 a0015c0056	a0001c0001t0001 a0001c0011t0001 a0001c0024t0001 others(7): Show a0001c0001t0001 a0001c0011t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0008 a0003c0008t0003 a0003c0038t0001 a0004c0004t0001 a0013c0019t0004 a0015c0056t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 others(30): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0307 a0001c0011t0001g0212 a0001c0011t0001g0232 a0001c0024t0001g0269 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0126 a0002c0002t0008g0170 a0003c0008t0003g0043 a0003c0038t0001g0199 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0120 a0013c0019t0004g0082 a0013c0019t0004g0083 a0015c0056t0001g0084	33	307	0.1075	21	c.88- others(34): Show c.88-401_88-400insGGCGCGTGTCTGCGGAGTGGG		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306215	T T	TCCCACTC others(14): Show TCCCACTCCGCAGACACGCGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02523.hp1 HG00609.hp1 HG02523.hp1	a0002 a0022 a0002 a0022	a0002c0002 a0022c0036 a0002c0002 a0022c0036	a0002c0002t0002 a0022c0036t0001 a0002c0002t0002 a0022c0036t0001	a0002c0002t0002g0217 a0022c0036t0001g0208 a0002c0002t0002g0217 a0022c0036t0001g0208	2	299	0.0067	21	c.88- others(34): Show c.88-872_88-871insGGCGCGTGTCTGCGGAGTGGG		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306759	T T	TCCCATTC others(14): Show TCCCATTCCACAGACATGCGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(12): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00673.hp1 HG01257.hp1 HG02129.hp1 HG02132.hp1 HG02523.hp1 HG03710.hp2 HG04184.hp1 NA18953.hp2 NA18962.hp1 NA19010.hp2 NA19012.hp1 NA19080.hp2	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0020 a0022	a0002c0002 a0004c0004 a0006c0010 others(2): Show a0002c0002 a0004c0004 a0006c0010 a0020c0035 a0022c0036	a0002c0002t0002 a0004c0004t0001 a0006c0010t0001 others(2): Show a0002c0002t0002 a0004c0004t0001 a0006c0010t0001 a0020c0035t0001 a0022c0036t0001	a0002c0002t0002g0137 a0002c0002t0002g0217 a0004c0004t0001g0004 others(12): Show a0002c0002t0002g0137 a0002c0002t0002g0217 a0004c0004t0001g0004 a0004c0004t0001g0100 a0004c0004t0001g0163 a0004c0004t0001g0256 a0004c0004t0001g0261 a0004c0004t0001g0279 a0004c0004t0001g0288 a0004c0004t0001g0290 a0006c0010t0001g0187 a0006c0010t0001g0226 a0006c0010t0001g0228 a0020c0035t0001g0255 a0022c0036t0001g0208	15	307	0.0489	21	c.88- others(36): Show c.88-1416_88-1415insGGCGCATGTCTGTGGAATGGG		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89384879	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02300.hp1 NA18975.hp2 HG01123.hp2 HG02300.hp1 NA18975.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0116 a0003c0003t0001g0075 a0001c0001t0001g0039 a0001c0001t0001g0116 a0003c0003t0001g0075	3	21	0.1429	21	c.-60 others(40): Show c.-60+33384_-60+33404dupAAAAAAAAAAAAAAAAAAAAA		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 HG01192.hp2 others(9): Show HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG03017.hp1 HG03704.hp2 HG04204.hp2 NA18944.hp2 NA18947.hp1 NA18952.hp1 NA18959.hp2 NA19005.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0012 a0001c0001 a0002c0002 a0007c0012	a0001c0001t0001 a0002c0002t0002 a0007c0012t0001 a0001c0001t0001 a0002c0002t0002 a0007c0012t0001	a0001c0001t0001g0048 a0001c0001t0001g0180 a0001c0001t0001g0183 others(9): Show a0001c0001t0001g0048 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0260 a0001c0001t0001g0307 a0002c0002t0002g0165 a0002c0002t0002g0171 a0002c0002t0002g0230 a0002c0002t0002g0299 a0002c0002t0002g0306 a0007c0012t0001g0128 a0007c0012t0001g0156	12	109	0.1101	21	c.-60 others(38): Show c.-60+2434_-60+2454dupTTTTTTTTTTTTTTTTTTTTT		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9156926	T T	TAGAGTAG others(14): Show TAGAGTAGGTTCATGGAGATAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0111 a0003c0003t0001g0111	1	316	0.0032	21	c.-52 others(40): Show c.-52+19963_-52+19983dupGAGTAGGTTCATGGAGATAGA		ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar

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